Inclusion body myopathy 2

GNE Myopathy, Hereditary inclusion body myopathy (HIBM)


Type of disease: Rare Condition or Disease

Inclusion body myopathy 2, also known as hereditary inclusion body myopathy (HIBM), GNE-related myopathy,  distal myopathy with rimmed vacuoles, and Nonaka myopathy, is an inherited condition that primarily affects the skeletal muscles (the muscles that the body uses to move). This disorder is characterized by muscle weakness that appears in late adolescence or early adulthood and worsens over time. Early symptoms typically develop in the 20s and 30s and may include difficulty running or walking, tripping, weakness in the index finger, and frequent loss of balance.  Inclusion body myopathy 2 is caused by mutations in the GNE gene. The condition is inherited in an autosomal recessive manner. Treatment is focused on managing individual symptoms. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

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